ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) (rs766206507)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734009 SCV000862118 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000734009 SCV001758466 uncertain significance not provided 2020-08-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28964290)

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